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Dr Philip Young



Associate Professor


Life Sciences
University of Warwick

Research Interests

Spinal muscular atrophy (SMA) is one of the leading genetic causes of infant mortality in the UK, with a carrrrier frequency of 1 in 34 and an incident rate of approximately 1 in 4600 live births. SMA is caused by mutations in the survival motor neuron (SMN) gene. The SMN protein is a ubiquitously expressed RNA chaperone, playing a role in RNA transcription, splicing, translation and transport. Prior to joining Warwick my work focused on the normal physiological role of the SMN protein- particularly why motor neurones appear more sensitive to SMN levels than other cell types.

Since joining Warwick, in collaboration with Dr Felicity Boardman (Associate Professor, Warwick Medical School) I have concentrated on gaining evidence to support the implementation of a UK SMA Screening Programme. Our efforts are focused on addressing criterion 12 of the National Screening Committee's guidelines for new screening tests- namely addressing whether there is support within the UK SMA community and general public for pre-conception, prenatal or newborn screening programmes. These studies have been expanded to include other genetic disorders, including haemophilia, thalassemia, cystic fibrosis and fragile x syndrome.


1996. BSc (Hons) Clinical Sciences (Immunology) Kings' College, London
2000. PhD Protein Biochemistry University of Wales
2000-2002. Post-Doctoral Research Fellow: Arizona State University
2002-2004. Post-Doctoral Research Fellow: University of Missouri-Columbia
2004-2010. Vandervell Lecturer in Human Function (Assistant Professor): Peninsula Medical School, University of Exeter

Fellow of the Royal Society of Biology
Senior Fellow of the Higher Education Academy
Royal Society of Biology Education and Science Policy Committee Member

Research Projects

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